Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Marschik, PB; Einspieler, C; Oberle, A; Laccone, F; Prechtl, HF.
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome.
J Autism Dev Disord. 2009; 39(6): 958-961.
Doi: 10.1007/s10803-009-0703-x
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- Führende Autor*innen der Med Uni Graz
- Einspieler Christa
- Marschik Peter
- Co-Autor*innen der Med Uni Graz
- Prechtl Heinz
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- Abstract:
- The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life.
- Find related publications in this database (using NLM MeSH Indexing)
- Age Factors -
- Child -
- Child Development -
- Eye Movements -
- Facial Expression -
- Female -
- Humans -
- Motor Skills -
- Prospective Studies -
- Retrospective Studies -
- Rett Syndrome - diagnosis Rett Syndrome - psychology
- Speech -
- Stereotyped Behavior -
- Video Recording -
- Find related publications in this database (Keywords)
- Autism spectrum
- Development
- Genetic disorder
- General movements
- Language
- MECP2
- Stereotypies